Introduction of OTC Gene into Ornithine Transcarbamylase (OTC) Deficient (spf-ash) Mice
January 1991
TLDR Introducing the OTC gene improved symptoms in mice with OTC deficiency.
The study focused on the sparse fur with abnormal skin and hair (spf-ash) mouse, a model for human ornithine transcarbamylase (OTC) deficiency, characterized by hyperammonemia, orotic aciduria, and delayed hair growth. Researchers introduced the rat OTC (rOTC) gene into spf-ash mice, resulting in hemizygous spf-ash mice with significantly increased OTC activities in the liver and small intestine compared to spf-ash mice, though still lower than controls. These genetically modified mice exhibited normal hair growth, normalized urinary orotic acid excretion, and serum citrulline and arginine concentrations, indicating a successful amelioration of the deficiency symptoms.